PMM2‐CDG caused by uniparental disomy: Case report and literature review [PDF]
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Laurien Vaes +6 more
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Platelet Membrane Glycoprofiling in a PMM2-CDG Patient [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2021 Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as ...
G.M. Papazoglu +9 more
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Disease Models & Mechanisms, 2019 Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer +10 more
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Unsuccessful intravenous D-mannose treatment in PMM2-CDG [PDF]
Orphanet Journal of Rare Diseases, 2019 Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert +8 more
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Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment [PDF]
Orphanet Journal of Rare Diseases, 2015 Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
García-Cazorla, Angels +22 more
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A complement C4–derived glycopeptide is a biomarker for PMM2-CDG [PDF]
JCI InsightBACKGROUND Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age.
Kishore Garapati +22 more
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A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses [PDF]
Orphanet Journal of Rare DiseasesPMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum.
Tiago Oliveira +6 more
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Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]
J Inherit Metab DisAbstract PMM2‐CDG (formerly CDG‐1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2‐CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide.
Weixel T +6 more
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Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report [PDF]
Frontiers in Genetics, 2020 Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba +14 more
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PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India [PDF]
Global Medical Genetics, 2023 Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy.
N. Sreedevi +4 more
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